Results 91 to 100 of about 11,012 (235)
, 2021 We report a case of a female baby born at 34 weeks of gestation. Birth weight was 1760 g (10th-25th centile), length 41cm (10th-25th centile) and head circumference 27cm (
Sandal, G., Ormeci, A. R., Tok, L.
core
A case of holoprosencephaly and cebocephaly associated to torch infection
, 2005 Cebocephaly is a very rare congenital anomaly combining a severe midline facial malformation and holoprosencephaly. Here we report on first case of cebocephaly with semilobar holoprosencephaly, hypotelorism, and a single nostril due to intrauterine TORCH
core +2 more sources
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018 Holoprosencephaly (HPE) is a frequent human forebrain developmental disorder with both genetic and environmental causes. Multiple loci have been associated with HPE in humans, and potential causative genes at 14 of these loci have been identified ...
D. Wotton, Kenichiro Taniguchi
semanticscholar +1 more source
Etymology and entomology: The semiotics and ethics of multispecies gene nomenclatures
Journal of Linguistic Anthropology, Volume 36, Issue 2, August 2026.Abstract This article examines controversies surrounding gene names that are perceived as humorous in the context of fruit flies but are considered rude in the clinical context of human medicine. Drawing on ethnographic fieldwork in insect laboratories, interviews with entomologists and geneticists, and an analysis of scientific and clinical ...
Colin M. E. Halverson
wiley +1 more source
Nongenetic risk factors for holoprosencephaly: An updated review of the epidemiologic literature
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018 Holoprosencephaly (HPE) is a major structural birth defect of the brain that occurs in approximately 1 in 10,000 live births. Although some genetic causes of HPE are known, a substantial proportion of cases have an unknown etiology.
April D Summers +3 more
semanticscholar +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
BOC is a Modifier Gene in Holoprosencephaly
Human Mutation, 2017 Holoprosencephaly (HPE), a common developmental defect of the forebrain and midface, has a complex etiology. Heterozygous, loss‐of‐function mutations in the sonic hedgehog (SHH) pathway are associated with HPE.
Mingi Hong +8 more
semanticscholar +1 more source
Antenatal Diagnosis of Alobar Holoprosencephaly [PDF]
, 2014 A twenty-year-old second gravida presented to the department of radiodiagnosis for routine obstetric ultrasound examination. Ultrasonography revealed a live fetus of 17 weeks with absent falx, fused thalami, monoventricle, proboscis, and cyclopia.
Rajesh Raman, Geetha Mukunda Jagadesh
core +1 more source
Clinical case of semilobar holoprosencephaly
, 2021 Since the direct etiological factors of developmental abnormalities are not known, the main groups of causes contributing to the formation of brain malformations are identified in the work.
A. V. Serezhkina +5 more
core +1 more source